8-year-old Al is in for follow-up of an ear infection, but his mother is more interested in why no hair will grow on that spot on the back of his head.
8-year-old Al O’Pecia is in for follow-up of an ear infection and while he's there his mother asks about the bald spot on the back of his head.
History: Bald spot present since birth, when it was a “raw spot.” It has grown proportionately with his head. There has never been hair in the bald spot. Prenatal history was normal. In all other aspects, his health has been excellent.
The ear infection is resolved. The physical examination is totally normal except for the scalp. There is a smooth, oval, ~3.5 cm (in diameter) midline defect at the vertex of the scalp. The lesion is devoid of hair, forming an area of cicatrical alopecia.
Differential diagnosis: Tinea capitis (congenital), alopecia areata, congenital trichotillomania, telogen effluvium, maternal nutritional deficiency during pregnancy, aplasia cutis congenita, other?
Aplasia cutis congenita:Congenital absence of the dermis to varying degrees: Usually loss of skin and hair with occasional defects that may involve the skull and periostium. Has been described as an autosomal dominant condition.
Aplasia cutis congenita: Most commonly located in the scalp but can also be located elsewhere on the body. Is also associated with: Trisomy 13, 15, and 18. Conradi syndrome (bone, joint, eye defects-particularly cataracts)
Children diagnosed with aplasia cutis congenita should receive a complete medical evaluation to determine whether this disorder is occurring on its own or as a secondary characteristic of another disorder.
If aplasia cutis congenita is occurring on its own, affected children should be monitored for symptoms and physical characteristics associated with this disorder. Suspected cases call for immediate ultrasonography to evaluate for any accompanying intracranial malformations.
Medical treatments for aplasia cutis congenita include measures to prevent membranes from drying such as use of soothing, bland ointments. Antibiotics should be used only if signs of bacterial infection are present. The damaged area usually heals spontaneously.Genetic counseling may be of benefit for affected individuals and their families.
The young boy's ear infection is resolved and he is otherwise quite healthy for his age. The spot has been there since he was born, the mother reports, and hair has never grown there.Any thoughts on what the cause might be? Follow the case in Dr Jon Schneider's slides above and see if your initial hunch is correct.Â Â Â Â
âº Galbraith SS. Neonatal dermatology. In: Rudolph CD, Rudolph AR, Lister GE, First LR, Gershon AE, eds. Rudolph’s Pediatrics. 22nd ed. New York, NY: McGraw-Hill; 2011:chap 357.
âº Morelli JG. Cutaneous defects. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:2220-2222.
âº Iljin A, Kruk-Jeromin J. Aplasia cutis congenita. Adv Clin Exp Med. 2010;19:121-125
âº Aplasia Cutis Congenita (Medscape; updated 2015)
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